This is a genotype with recommended actions if clinically confirmed. In brief:
- Hereditary transthyretin-related amyloidosis is characterized by extracellular deposition of amyloid fibrils composed of TTR that accumulate in various organs and tissues.
- Due to widely varying penetrance, carrying a disease-causing TTR gene mutation is not considered diagnostic; only clinical observation and tissue biopsy should be used for diagnosis.
- The clinical symptoms appear to depend on both genotype and geographic origin; certain mutations do have characteristic clinical symptoms (if they present at all).
- Management includes regular invasive and non-invasive surveillance. Individuals should undergo assessments every 6 months to monitor disease progression, including neurologic and autonomic assessments, echocardiography, Holter monitoring, opthalmologic, mBMI, electrophysiologic evaluation, an cardiac and renal lab measurements.
- Individuals should not use local heating appliances, such as hot-water bottles, which can cause low-temperature burn injury in those with decreased temperature and pain perception.
The full ClinGen Actionability report about Hereditary transthyretin-related amyloidosis (TTR) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.